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NM_007327.4(GRIN1):c.780C>T (p.Arg260=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Jun 15, 2020
Accession:
VCV000374564.11
Variation ID:
374564
Description:
single nucleotide variant
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NM_007327.4(GRIN1):c.780C>T (p.Arg260=)

Allele ID
361450
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 137156777 (GRCh38) GRCh38 UCSC
9: 140051229 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.140051229C>T
NC_000009.12:g.137156777C>T
NG_011507.1:g.22621C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:137156776:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
ClinGen: CA5360752
dbSNP: rs3181450
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 1, 2016 RCV000416174.5
Likely benign 1 criteria provided, single submitter Jun 15, 2020 RCV001081754.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GRIN1 - - GRCh38
GRCh37
447 512

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000493360.13
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Jun 15, 2020)
criteria provided, single submitter
Method: clinical testing
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Allele origin: germline
Invitae
Accession: SCV000771494.4
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs3181450...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 07, 2021